OR3A2

gene
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Also known as OLFRA04OR228OR17-228

Summary

OR3A2 (olfactory receptor family 3 subfamily A member 2, HGNC:8283) is a protein-coding gene on chromosome 17p13.3, encoding Olfactory receptor 3A2 (P47893). Odorant receptor.

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome.

Source: NCBI Gene 4995 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 53 total
  • MANE Select transcript: NM_002551

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:8283
Approved symbolOR3A2
Nameolfactory receptor family 3 subfamily A member 2
Location17p13.3
Locus typegene with protein product
StatusApproved
AliasesOLFRA04, OR228, OR17-228
Ensembl geneENSG00000221882
Ensembl biotypeprotein_coding
Entrez4995

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000573491, ENST00000573901, ENST00000576166, ENST00000641164, ENST00000642052, ENST00000869173, ENST00000869174, ENST00000961576, ENST00000961577, ENST00000961578

RefSeq mRNA: 1 — MANE Select: NM_002551 NM_002551

CCDS: CCDS42233

Canonical transcript exons

ENST00000573901 — 5 exons

ExonStartEnd
ENSE0000265922233360293336126
ENSE0000266912932843583284551
ENSE0000381189633861253386308
ENSE0000399752032761773278923
ENSE0000399752132790763279153

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 83.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1994 / max 25.4651, expressed in 92 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1638440.199492

Top tissues by expression

257 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.08gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099176.58gold quality
right testisUBERON:000453467.76gold quality
left testisUBERON:000453367.26gold quality
testisUBERON:000047366.16gold quality
pancreatic ductal cellCL:000207964.51silver quality
islet of LangerhansUBERON:000000657.72gold quality
nasal cavity epitheliumUBERON:000538456.65gold quality
cortical plateUBERON:000534356.58gold quality
deciduaUBERON:000245056.55gold quality
parotid glandUBERON:000183156.24gold quality
ventricular zoneUBERON:000305354.29gold quality
nucleus accumbensUBERON:000188254.26gold quality
sural nerveUBERON:001548853.99silver quality
caudate nucleusUBERON:000187353.03gold quality
granulocyteCL:000009452.97gold quality
C1 segment of cervical spinal cordUBERON:000646952.54gold quality
hair follicleUBERON:000207352.43gold quality
prefrontal cortexUBERON:000045152.19gold quality
putamenUBERON:000187452.10gold quality
epithelial cell of pancreasCL:000008351.98gold quality
Brodmann (1909) area 46UBERON:000648351.71gold quality
hypothalamusUBERON:000189851.61gold quality
spinal cordUBERON:000224051.43gold quality
quadriceps femorisUBERON:000137750.60gold quality
substantia nigraUBERON:000203850.28gold quality
vastus lateralisUBERON:000137950.22gold quality
deltoidUBERON:000147650.04silver quality
lymph nodeUBERON:000002949.74gold quality
Brodmann (1909) area 9UBERON:001354049.38gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no2.41

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 3A2P47893 (reviewed: P47893)

Alternative names: Olfactory receptor 17-228, Olfactory receptor OR17-14

All UniProt accessions (3): A0A286YF44, A0A286YF70, A0A286YFF0

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_002542* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000276GPCR_RhodpsnFamily
IPR000725Olfact_rcptFamily
IPR017452GPCR_Rhodpsn_7TMDomain

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence conflict 4, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P47893-F185.250.54

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 106–198

Glycosylation sites (1): 14

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9752946Expression and translocation of olfactory receptors

MSigDB gene sets: 33 (showing top): RNGTGGGC_UNKNOWN, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, TGACCTY_ERR1_Q2, GGCNKCCATNK_UNKNOWN, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, IRF1_01, DCA_UP.V1_UP

GO Biological Process (5): signal transduction (GO:0007165), sensory perception of chemical stimulus (GO:0007606), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Olfactory Signaling Pathway1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transmembrane signaling receptor activity2
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
sensory perception1
G protein-coupled receptor activity1
signal transduction1
sensory perception of chemical stimulus1
sensory perception of smell1
detection of chemical stimulus involved in sensory perception1
G protein-coupled receptor signaling pathway1
detection of chemical stimulus involved in sensory perception of smell1
molecular transducer activity1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

304 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
OR3A2KRTAP9-7A8MTY7601
OR3A2CDRT15L2A8MXV6590
OR3A2TBC1D28Q2M2D7513
OR3A2KRTAP9-8Q9BYQ0507
OR3A2SLC35G3Q8N808505
OR3A2SLC35G6P0C7Q6505
OR3A2CCDC144AA2RUR9480
OR3A2DYTNA2CJ06480
OR3A2SPDYE4A6NLX3477
OR3A2KRTAP9-1A8MXZ3477
OR3A2CHCT1Q86WR6474
OR3A2TBC1D26Q86UD7472
OR3A2TPK1Q9H3S4463
OR3A2SPAG6O75602461
OR3A2PRKAG3Q9UGI9458

IntAct

2 interactions, top by confidence:

ABTypeScore
ALBSH3BP5psi-mi:“MI:0914”(association)0.350

BioGRID (2): OR3A2 (Affinity Capture-MS), OR3A2 (Affinity Capture-MS)

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

Diamond homologs: A4D2G3, A6NL26, O14581, O43749, O60431, O76100, O95221, P0C626, P0C7N5, P23265, P23266, P23274, P30953, P30955, P34985, P37070, P47881, P47883, P47888, P47890, P47893, P58173, P70526, Q15617, Q15619, Q15620, Q15622, Q60881, Q60882, Q60886, Q60890, Q60891, Q60895, Q6IEU7, Q8N127, Q8NG98, Q8NGA1, Q8NGF4, Q8NGG6, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

53 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance50
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

668 predictions. Top by Δscore:

VariantEffectΔscore
17:3291761:AT:Adonor_gain0.7800
17:3291811:CTG:Cdonor_gain0.7800
17:3278693:T:TAdonor_gain0.7600
17:3291913:C:CTacceptor_gain0.7600
17:3292330:A:Cdonor_gain0.7600
17:3291810:CCT:Cdonor_gain0.7500
17:3291914:G:Cacceptor_gain0.7500
17:3291807:ATACC:Aacceptor_loss0.7300
17:3291808:TACCT:Tacceptor_loss0.7300
17:3291809:ACCT:Aacceptor_loss0.7300
17:3291810:CC:Cacceptor_loss0.7300
17:3291811:CT:Cacceptor_loss0.7300
17:3291812:T:Gacceptor_loss0.7300
17:3292259:A:Cacceptor_gain0.7300
17:3291812:TGA:Tdonor_gain0.7000
17:3278222:A:Cdonor_gain0.6800
17:3278285:G:Adonor_gain0.6700
17:3278360:C:Aacceptor_gain0.6700
17:3278152:C:CTacceptor_gain0.6600
17:3291817:C:CTacceptor_gain0.6600
17:3291817:CA:Cacceptor_loss0.6600
17:3291832:C:CTdonor_gain0.6600
17:3291871:T:TAdonor_gain0.6600
17:3278303:C:Tacceptor_gain0.6500
17:3278148:C:Gacceptor_gain0.6300
17:3291825:A:Cacceptor_loss0.6300
17:3292256:C:CTacceptor_gain0.6300
17:3278304:A:ACdonor_gain0.6200
17:3278305:C:CCdonor_gain0.6200
17:3278248:CGTGG:Cacceptor_gain0.6100

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000037152 (17:3372840 A>G), RS1000052715 (17:3364223 T>C), RS1000056476 (17:3338182 G>A), RS1000098775 (17:3378123 G>A), RS1000104495 (17:3277800 T>C,G), RS1000105503 (17:3336317 A>T), RS1000109280 (17:3320370 C>A), RS1000131412 (17:3378322 T>C), RS1000159618 (17:3285893 T>C), RS1000190723 (17:3350007 A>C), RS1000192962 (17:3383038 C>T), RS1000228057 (17:3386339 C>T), RS1000264568 (17:3281919 G>C), RS1000315541 (17:3276796 C>A,T), RS1000330479 (17:3365770 A>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST002142_13Cocaine dependence4.000000e-07
GCST002142_7Cocaine dependence2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases methylation1
Asbestos, Crocidoliteaffects expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cocaine dependence